Phenotypes associated with this allele

• Allele Symbol: Snx10^{tm1a(EUCOMM)Raba}
• Allele Name: targeted mutation 1a, Ricardo A Battaglino
• Allele ID: MGI:5690193
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Snx10^tm1a(EUCOMM)Raba/Snx10^tm1a(EUCOMM)Raba	involves: 129S4/SvJae * C57BL/6 * C57BL/6J	MGI:5690201

Genotype
MGI:5690201

hm1

• Allelic Composition: Snx10^{tm1a(EUCOMM)Raba}/Snx10^{tm1a(EUCOMM)Raba}
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Snx10^{tm1a(EUCOMM)Raba}/Snx10^{tm1a(EUCOMM)Raba} mice are growth retarded, have a tooth eruption defect and have bones that lack marrow cavities

mortality/aging

premature death ( J:224711 )

• mice die between 3 and 4 weeks after birth

• calcium supplementation prevents premature death

growth/size/body

failure of tooth eruption ( J:224711 )

postnatal growth retardation ( J:224711 )

• by 14 days of age, mice exhibit severe growth retardation

skeleton

failure of tooth eruption ( J:224711 )

abnormal osteoclast physiology ( J:224711 )

• osteoclast formation is normal, however osteoclast activity is inhibited

abnormal long bone metaphysis morphology ( J:224711 )

• metaphyseal fraying and cupping

abnormal bone structure ( J:224711 )

• mice show presence of non-mineralized osteoid on the surface of the trabeculae

decreased bone mineral content ( J:224711 )

• bone mineral content is reduced 43%

• calcium supplementation restores bone mineral content

decreased bone mineral density ( J:224711 )

• bone mineral density is reduced about 14%

• calcium supplementation restores bone mineral density

increased bone volume ( J:224711 )

• mice have higher bone volume to tissue volume ratio

decreased compact bone thickness ( J:224711 )

• all mice exhibit a thinned or absent cortex, producing a moth-eaten appearance

increased bone trabecula number ( J:224711 )

• mice show higher trabecular number and numerous trabeculae within the bone marrow space

decreased bone trabecular spacing ( J:224711 )

osteopetrosis ( J:224711 )

abnormal skeleton development ( J:224711 )

• overall skeletal development is impaired, with higher radio-density in 3 week old mice

abnormal epiphyseal plate morphology ( J:224711 )

• increase in growth plate thickness in femur, lumbar vertebral bodies, and skull base/floor bones

increased osteoid volume ( J:224711 )

• increase in osteoid volume per bone volume and in bone volume per tissue volume in in femur, lumbar vertebral bodies, and skull base/floor bones

osteomalacia ( J:224711 )

• softening and weakening of the bones

rickets ( J:224711 )

• mice exhibit metaphyseal fraying and cupping indicative of rickets superimposed on osteopetrosis or osteopetrorickets

• calcium supplementation rescues mice from rickets

decreased bone stiffness ( J:224711 )

• tibia show lower maximal load, stiffness, energy to failure, and greater maximal displacement, indicating that they are weaker, less mineralized, and easier to deform

decreased bone strength ( J:224711 )

• tibia show lower maximal load, stiffness, energy to failure, and greater maximal displacement, indicating that they are weaker, less mineralized, and easier to deform

digestive/alimentary system

abnormal stomach morphology ( J:224711 )

• stomachs are prone to hemorrhagic necrosis

abnormal gastric chief cell morphology ( J:224711 )

• zymogenic chief cells are smaller and lack abundant apical secretory granules

abnormal gastric parietal cell morphology ( J:224711 )

• small size and high nuclear to cytoplasmic ratio of parietal cells

• increase in parietal cells in the base (zymogenic chief) zone

increased stomach pH ( J:224711 )

endocrine/exocrine glands

abnormal gastric chief cell morphology ( J:224711 )

• zymogenic chief cells are smaller and lack abundant apical secretory granules

abnormal gastric parietal cell morphology ( J:224711 )

• small size and high nuclear to cytoplasmic ratio of parietal cells

• increase in parietal cells in the base (zymogenic chief) zone

craniofacial

failure of tooth eruption ( J:224711 )

hematopoietic system

abnormal osteoclast physiology ( J:224711 )

• osteoclast formation is normal, however osteoclast activity is inhibited

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:224711 )

decreased circulating calcium level ( J:224711 )

• mice are severely hypocalcemic

• calcium supplementation restores normocalcemia

decreased vitamin D level ( J:224711 )

• lower 1,25-dihydroxyvitamin D levels

immune system

abnormal osteoclast physiology ( J:224711 )

• osteoclast formation is normal, however osteoclast activity is inhibited